Annotation Detail

Information
Associated Genes
ERCC5
Associated Variants
ERCC5 MUTATION
ERCC5 MUTATION
Associated Disease
xeroderma pigmentosum
Source Database
DisGeNET
Description
This cohort was composed of four patients with XP-C (XPC), two with XP-G (ERCC5), three with XP-A (XPA) and three with XP-V (POLH).
Pubmed
25256075
Section of the abstract supporting the evidence
RESULTS
Number of the section of the abstract supporting the evidence
4
Number of the sentence supporting the evidence
9
Original source reporting the Gene Disease association
BeFree,LHGDN
DisGENET score for the Gene Disease association
0.00978183891655506
Drugs